Canonical Allele Identifier: CA349336865

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614850A>C (hg19) ; chr2:g.174750122A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750122A>C , CM000664.2:g.174750122A>C	GRCh38
NC_000002.11:g.175614850A>C , CM000664.1:g.175614850A>C	GRCh37
NC_000002.10:g.175323096A>C	NCBI36
NG_008172.1:g.19351T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.337T>G	ENSP00000490338.2:p.Phe113Val
ENST00000672640.1:c.337T>G	ENSP00000500507.1:p.Phe113Val
ENST00000261007.9:c.901T>G	ENSP00000261007.5:p.Phe301Val
ENST00000348749.9:c.826T>G MANE Select	ENSP00000261008.5:p.Phe276Val
ENST00000409219.5:c.826T>G	ENSP00000386611.1:p.Phe276Val
ENST00000409542.5:c.580T>G	ENSP00000387026.1:p.Phe194Val
ENST00000435083.5:c.*470T>G	ENSP00000395805.1:n.*470T>G
NM_000079.3:c.826T>G	NP_000070.1:p.Phe276Val
NM_001039523.2:c.901T>G	NP_001034612.1:p.Phe301Val
XM_017003256.1:c.922T>G	XP_016858745.1:p.Phe308Val
XM_017003257.1:c.847T>G	XP_016858746.1:p.Phe283Val
NM_000079.4:c.826T>G MANE Select	NP_000070.1:p.Phe276Val
NM_001039523.3:c.901T>G	NP_001034612.1:p.Phe301Val